A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161888



Internal ID19304393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:96898097..96927058hg38UCSC Ensembl
Outerchr9:96896925..96943417hg38UCSC Ensembl
Innerchr9:99660379..99689340hg19UCSC Ensembl
Outerchr9:99659207..99705699hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3846493
hg1946493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037830, nssv4037831
Samples
Known GenesLOC441454, NUTM2G
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1161888
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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